PL3971902T3 - Base mutation detection method and apparatus based on sequencing data, and storage medium - Google Patents

Base mutation detection method and apparatus based on sequencing data, and storage medium

Info

Publication number
PL3971902T3
PL3971902T3 PL19928972.9T PL19928972T PL3971902T3 PL 3971902 T3 PL3971902 T3 PL 3971902T3 PL 19928972 T PL19928972 T PL 19928972T PL 3971902 T3 PL3971902 T3 PL 3971902T3
Authority
PL
Poland
Prior art keywords
storage medium
detection method
apparatus based
sequencing data
mutation detection
Prior art date
Application number
PL19928972.9T
Other languages
Polish (pl)
Inventor
Siyang LIU
Shujia HUANG
Xin Jin
Original Assignee
Bgi Genomics Co., Limited
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by Bgi Genomics Co., Limited filed Critical Bgi Genomics Co., Limited
Publication of PL3971902T3 publication Critical patent/PL3971902T3/en

Links

Classifications

    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B40/00—ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
    • G—PHYSICS
    • G06—COMPUTING; CALCULATING OR COUNTING
    • G06N—COMPUTING ARRANGEMENTS BASED ON SPECIFIC COMPUTATIONAL MODELS
    • G06N7/00—Computing arrangements based on specific mathematical models
    • G06N7/01—Probabilistic graphical models, e.g. probabilistic networks
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B50/00—ICT programming tools or database systems specially adapted for bioinformatics

Landscapes

  • Physics & Mathematics (AREA)
  • Engineering & Computer Science (AREA)
  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Medical Informatics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Theoretical Computer Science (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Evolutionary Biology (AREA)
  • General Health & Medical Sciences (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Databases & Information Systems (AREA)
  • Data Mining & Analysis (AREA)
  • Bioethics (AREA)
  • Evolutionary Computation (AREA)
  • Software Systems (AREA)
  • Artificial Intelligence (AREA)
  • Molecular Biology (AREA)
  • Computer Vision & Pattern Recognition (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Genetics & Genomics (AREA)
  • Epidemiology (AREA)
  • Analytical Chemistry (AREA)
  • Public Health (AREA)
  • Chemical & Material Sciences (AREA)
  • General Physics & Mathematics (AREA)
  • Algebra (AREA)
  • Computational Mathematics (AREA)
  • Probability & Statistics with Applications (AREA)
  • Mathematical Analysis (AREA)
  • Mathematical Optimization (AREA)
  • Pure & Applied Mathematics (AREA)
  • Computing Systems (AREA)
  • General Engineering & Computer Science (AREA)
  • Mathematical Physics (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
PL19928972.9T 2019-05-15 2019-05-15 Base mutation detection method and apparatus based on sequencing data, and storage medium PL3971902T3 (en)

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
PCT/CN2019/086972 WO2020227952A1 (en) 2019-05-15 2019-05-15 Base mutation detection method and apparatus based on sequencing data, and storage medium

Publications (1)

Publication Number Publication Date
PL3971902T3 true PL3971902T3 (en) 2023-07-10

Family

ID=73290105

Family Applications (1)

Application Number Title Priority Date Filing Date
PL19928972.9T PL3971902T3 (en) 2019-05-15 2019-05-15 Base mutation detection method and apparatus based on sequencing data, and storage medium

Country Status (10)

Country Link
US (1) US20220068437A1 (en)
EP (1) EP3971902B1 (en)
CN (1) CN113795886A (en)
DK (1) DK3971902T3 (en)
ES (1) ES2942359T3 (en)
HU (1) HUE061763T2 (en)
IL (1) IL288026A (en)
PL (1) PL3971902T3 (en)
SG (1) SG11202112408QA (en)
WO (1) WO2020227952A1 (en)

Families Citing this family (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN115798578B (en) * 2022-12-06 2024-06-18 中国人民解放军军事科学院军事医学研究院 Device and method for analyzing and detecting new epidemic variant strain of virus

Family Cites Families (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN106570350B (en) * 2015-12-17 2019-04-05 复旦大学 Mononucleotide polymorphic site parting algorithm
WO2017115741A1 (en) * 2015-12-28 2017-07-06 国立大学法人東北大学 Method for estimating allele-specific gene expression frequency, computer system used for estimation, and program used for estimation
CN107491666B (en) * 2017-09-01 2020-11-10 深圳裕策生物科技有限公司 Method, device and storage medium for detecting mutant site of single sample somatic cell in abnormal tissue
CN108733975B (en) * 2018-03-29 2021-09-07 深圳裕策生物科技有限公司 Tumor clonal variation detection method and device based on next generation sequencing and storage medium

Also Published As

Publication number Publication date
CN113795886A (en) 2021-12-14
WO2020227952A1 (en) 2020-11-19
EP3971902B1 (en) 2023-01-18
EP3971902A1 (en) 2022-03-23
ES2942359T3 (en) 2023-05-31
DK3971902T3 (en) 2023-04-17
EP3971902A4 (en) 2022-05-04
SG11202112408QA (en) 2021-12-30
US20220068437A1 (en) 2022-03-03
IL288026A (en) 2022-07-01
HUE061763T2 (en) 2023-08-28

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